TY - JOUR
T1 - Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
AU - Fusco, Francesca
AU - Fimiani, Giorgia
AU - Tadini, Gianluca
AU - Michele, D'Urso
AU - Ursini, Matilde Valeria
PY - 2007/2
Y1 - 2007/2
N2 - Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.
AB - Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well. Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.
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U2 - 10.1016/j.jaad.2006.09.019
DO - 10.1016/j.jaad.2006.09.019
M3 - Article
C2 - 17224368
AN - SCOPUS:33846071480
VL - 56
SP - 264
EP - 267
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
SN - 0190-9622
IS - 2
ER -